Detection of combined genomic variants in a Jordanian family with familial non-autoimmune hyperthyroidism

@article{Ismail2009DetectionOC,
  title={Detection of combined genomic variants in a Jordanian family with familial non-autoimmune hyperthyroidism},
  author={Said I. Ismail and Ismail S. Mahmoud and Mahmoud Al-Ardah and Amid Abdelnour and Nidal A. Younes},
  journal={Journal of Genetics},
  year={2009},
  volume={88},
  pages={233-238}
}
Five patients, four brothers and their paternal aunt, presented with a history of overt hyperthyroidism and goiter. Hyperthyroidism in this family was remarkable for its poor response to carbimazole (30–50 mg/d). The thyroid ultrasound showed a diffusely enlarged gland in all the affected members, and thyroid stimulating antibodies (TSAB) were negative. Screening for germline mutations in thyroid stimulating hormone (TSH) receptor (TSHR) gene was performed by direct sequencing of genomic DNA… CONTINUE READING

References

Publications referenced by this paper.
SHOWING 1-10 OF 36 REFERENCES

Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia

M. Tonacchera, J. Van Sande, +3 authors P Winiszewski
  • J. Clin. Endocrinol. Metab
  • 1996
VIEW 3 EXCERPTS
HIGHLY INFLUENTIAL

Germline mutations in the thyrotropin receptor gene cause non–autoimmune autosomal dominant hyperthyroidism

Laurence Duprez, Jasmine Parma, +8 authors G. Vassart
  • Nature Genetics
  • 1994
VIEW 5 EXCERPTS
HIGHLY INFLUENTIAL

A family with a novel TSH receptor activating germline mutation (p.Ala485Val)

Sema Akcurin, Doga Turkkahraman, +4 authors Sabine Costagliola
  • European Journal of Pediatrics
  • 2007
VIEW 3 EXCERPTS